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Gene : A2M Homo sapiens

Name  ? alpha-2-macroglobulin Cytological Location  12p13.31
Brief Description  alpha-2-macroglobulin
description  The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]
  • synonyms:
  • FWP007,
  • A2MD,
  • OTTHUMG00000150267,
  • BX647329,
  • NM_000014,
  • X68728,
  • CPAMD5,
  • A2M,
  • FWP007,
  • M11313,
  • HGNC:7,
  • CPAMD5,
  • S863-7,
  • S863-7,
  • uc001qvk.2
  • identifiers:
  • 2,
  • ENSG00000175899,
  • A2M

Genome feature

Region: gene ? Length: 48522  
Location: 12:9067708-9116229 reverse strand Cyto location: 12p13.31


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

2011 SN Ps

5 Cross References

18 Data Sets

0 Homologues

0 Located Features

90 Rna Seq Results